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Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies
M Zeviani1, C Gellera, M Pannacci
1Department of Biochemistry and Genetics, Istituto Nazionale Neurologico, Carlo Besta, Milan, Italy.
Annals of Neurology
|July 1, 1990
Abstract:
By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.